Helen

Our family profile is from Helen, who is still awaiting diagnosis of her children’s condition:

My name is Helen and I live in Cheshire, I am a single mum to Chelsea, 9, Stephanie 2 and Daniel 1. My younger two children both suffer from light intolerance and in the process of investigations. When Chelsea was 6, I met my partner at the local gym,. I became pregnant about a year later with Stephanie. After a long pregnancy and probably too many doughnuts, I gave birth to a beautiful baby girl weighing a whipping 10lb 3ozs! Everything seemed well for the first few months.

When Stephanie was 12 weeks old we went on holiday to Tenerife. After two days her eyes became infected and despite antibiotics her eyes were completely closed and swollen for a week. She suffered 7 of these eye infections in 8 months. The doctors said she had a blocked tear duct!
During that first summer I noticed her exposed skin becoming red even though she was always under a sun canopy and in the shade. We bought a pair of sunglasses which seemed to protect her for a while, but then the skin on her face began to burn also the lower part of her arms which had been exposed. As winter crept in things became a little easier.

I gave birth to Daniel in December, thankfully he was a little smaller at 8lb 5ozs. Spring arrived, along with bright days and the summer sun. A time that many people wish for. For the early part of that year (2000), Stephanie would be in her paddling pool with a UV body suit, factor 60, sunglasses, hat, under a parasol and in the shade! She could tolerate 2—30 minutes before her skin would become red and we would come back indoors. It was one of those days that Daniel burnt. He was asleep in his chair, 6 feet away from the patio doors, the garden was all in shade. After 20 minutes, I noticed his face bright red. I thought he must be too hot, even though he only wore a cotton T-Shirt and a nappy. That night when I removed his T-Shirt he had a large red V on his chest where his arms had been. All his face and chest was blistered and peeling. It was the I realized something wasn’t right with my babies.

Ironically I saw the article about 2 children in Liverpool who had XP. After a call to the television studio, they put me in touch with the XP Support Group. Shortly after that I received the special visor material*. I couldn’t wait to take the children out. Our first trop was to Toys R Us. We walked through the doors into the lights and headed towards the outdoor equipment. After 5 minutes Stephanie began screaming. I looked at her face under the visor. Her eyes were swollen and all her skin was red raw. We drove home with Stephanie screaming the whole way. We bathed her skin with ice water. Her cheek was blistered. From there we went to see a photo-biologist at Hope Hospital who sent my children for biopsies. We now have to sit and wait.

We spent the rest of that summer behind curtains.

We are now in January and things have deteriorated a lot in the last few months. Stephanie burns with UV and visible light. Even a 40 watt light bulb burns her little face. We spend our days behind blacked out glass with only a 10watt light bulb, the television is dimmed very low. If I go to the shops the children travel in a blacked out buggy, which gets very hot and stuffy underneath.

We have raised enough money to buy the space-suits from the HED Foundation in the USA. Stephanie still has the burns on her face and chins, 5 months after the event, despite course of steroid and hydrocortisone creams. Thankfully Daniel’s skin will not be as sensitised as Stephanie’s as he went into the dark at a younger age.

I have to deal with the ignorance of people in the Health service who have said that because they haven’t seen the children burn, then they found it hard to believe what was happening!!! When are these people, who are supposed to work in a caring profession, begin to start listening? Just because they haven’t dealt with it before, doesn’t mean it doesn’t exist! I now have a fantastic occupational therapist called Lorraine who helps with the support that we need as a family.

Even though Stephanie and Daniel suffer with the illness, it affects Chelsea too. She ahs lived in a light world for eight years and now has to live in the dark.

I don’t know what is around the corner for us or what the future holds, but when I wake in the morning to these three smiling happy faces it makes life a little easier.

"Chelsea, Stephanie and Daniel, you are my three special stars who shine bight enough to light the dark skies"

* The protective film blocks out UV, but if someone is sensitive to visible light as well, it cannot on its own , give sufficient protection.